Jonathan Berg

Deciphering Developmental Disorders (DDD) Study, Jackson, A., Ward, H., Bromley, R., Deshpande, C., Vasudevan, P. C., Scurr, I., Dean, J., Shannon, N., Berg, J., Holder, S., Baralle, D. & Clayton-Smith, J., 19 Mar 2020, In : Archives of Disease in Childhood. 105, p. 384-389 6 p.

Research output: Contribution to journal › Article

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Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

Deciphering Developmental Disorders (DDD) Study, Michael Yates, T., Ng, O. H., Offiah, A. C., Willoughby, J., Berg, J. N. & Johnson, D. S., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 43-49 7 p.

Research output: Contribution to journal › Article

Open Access

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

Research output: Contribution to journal › Article

3 Citations (Scopus)

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Deciphering Developmental Disorders (DDD) Study, Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U. & 33 others, Joss, S., von der Lippe, C., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M. H. F., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Küry, S. & Campeau, P. M., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journal › Article

Open Access

2 Citations (Scopus)

P6505 Urinary desmosine, an elastin-specific degradation product is associated with maximum aortic root size and aortic z-scores in patients with bicuspid aortic valve

Iskandar, Z., Huang, J. T. J., Mordi, I., Miller, L. D., Chin, C., Goudie, D., Mcwilliam, C., Berg, J., Neagoie, A., Lang, C. C. & Choy, A. M., 21 Oct 2019, p. ehz746.1095.

Research output: Contribution to conference › Abstract